glycogen storage disease/carbohydrate

GSD-1 (glycogen storage disease type 1) is caused by an inherited defect in glucose-6-phosphatase activity, resulting in a massive accumulation of hepatic glycogen content and an induction of de novo lipogenesis. The chlorogenic acid derivative S4048 is a pharmacological inhibitor of the glucose

Carbohydrates with digestion characteristics between those of lente uncooked starches and rapidly digestible oligosaccharides were administered in a dose of 1.5 g/kg body weight to five patients with glycogenosis from glucose-6-phosphatase deficiency. Postprandial duration of normoglycemia and

BACKGROUND Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). GSDIa patients are at higher risk of developing insulin-resistance (IR). Mitochondrial dysfunction has been implicated in

Glycogen storage diseases (GSD) include inborn errors in glycogen synthesis and degradation which, like most metabolic diseases, evades any therapeutical concept up to now. Nevertheless, in a subgroup of glycogenoses, characterized by functional absence of the key glycogenolytic enzyme

The effect of ingestion of uncooked cornstarch (2 g/kg body weight) in water, uncooked starch (1 g/kg) added to a meal, and glucose (2 g/kg) in water, was studied in eight patients with type IA glycogen storage disease (GSD) and one patient with type IB GSD. Blood glucose concentrations were

This study measures hexose monophosphate (HMP) shunt activity, glycolytic rate, and glucose transport in PMN and lymphocytes of patients with glycogen storage disease (GSD) type Ib as compared with controls and with GSD Ia patients. HMP shunt activity and glycolysis were significantly lower in

Factors which may explain lower serum uric in a new therapy of patients with glycogen storage disease (GSD) type I have been studied. [1-14C]Glycine incorporation into urine uric acid was 0.68% of the injected dose during a 6-day period of frequent high carbohydrate feedings, 0.40% with the same

A 5 years old boy affected with Glycogen Storage Disease type Ia (GSD-Ia) with previous optimal metabolic control developed severe erratic hypoglycemic episodes during continuous nocturnal gastric drip-feeding (CNGDF) administered by nasogastric tube. The episodes of hypoglycemia were not related to

Glycogen storage diseases are rare genetic disorders, mostly autosomal recessively inherited. Abnormal accumulation is because of the lack of one of the enzymes involved in glycogen metabolism. Neurological manifestation of the diseases involves muscle weakness and hypoglycemia-induced seizures. In

Two children with type I glycogen-storage disease were treated at home with continuous nocturnal intragastric feeding, using a high glucose formula. The children were 6.5 years and 32 months old respectively when initiating treatment, and they have now been treated for 24 and 18 months. A high